title: [Laboratory diagnosis of rare diseases].
abstract: Inborn errors of metabolism (IEM) are a group of diseases whose diagnosis is usually performed by quantification of several metabolites in biological fluids. The aim of this review is to report the role of the laboratory in IEM diagnosis, highlighting the methods available at present and their advantages and limitations. In conclusion, the huge number of recognized IEMs strongly advises the implementation of new high- output technologies in the laboratories devoted to IEM diagnosis. Although these technologies offer a high diagnostic ability, routine analyses are still very important, as well as consideration of several variables involved in biological sample collection and disease expression that may lead to misdiagnosis of IEMs.
authors.affiliation: Departamento de Bioquímica Clínica, Hospital San Juan de Dios, Esplugues, Barcelona, 08950, Spain. rartuch@hsjdbcn.org
authors.forename: R
authors.initials: R
authors.lastname: Artuch Iriberri
authors.forename: J
authors.initials: J
authors.lastname: Moreno
authors.forename: Rm
authors.initials: R
authors.lastname: Puig
authors.forename: M
authors.initials: M
authors.lastname: Quintana
authors.forename: R
authors.initials: R
authors.lastname: Montero
authors.forename: A
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Ma
authors.initials: M
authors.lastname: Vilaseca
mesh_terms: D019963:Clinical Chemistry Tests; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D011506:Proteins / Q000032:analysis; D035583:Rare Diseases / Q000175:diagnosis* / Q000378:metabolism
chemical_list: D011506:Proteins